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Results for the Protein: NP_060209
210147552

protein O-linked-mannose beta-1,2-N-acetylglucosaminyltransferase 1 isoform 1 [Homo sapiens]

Known Diseases associated with this Protein:
  ANOMALIES), TYPE A, 3
  MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE
  MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),
  MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3
  TYPE B, 3
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Default View:

GNT-I - pfam03071
GT13_GLCNAC-TI - cd02514


RefSeq Protein: NP_060209
   Default View:




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
GT13_GLCNAC-TIcd025145.5e-219301628
GNT-Ipfam030712.1e-16228635

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs6659553 Polymorphismp.MET623VALN/A
OMIM606822.0007 Diseasep.ARG442CYSMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 3
OMIM606822.0008 Diseasep.ARG311GLNMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 3
OMIM606822.0014 Diseasep.ARG605PROMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),||TYPE B, 3
OMIM606822.0009 Diseasep.ARG63TERMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 3
OMIM606822.0013 Diseasep.ASP556ASNMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 3
OMIM606822.0016 Diseasep.CYS490TYRMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),||TYPE B, 3
OMIM606822.0005 Diseasep.PRO493ARGMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 3
OMIM606822.0003 Diseasep.SER550ASNMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 3
OMIM606822.0012 Diseasep.TRP475TERMUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE||ANOMALIES), TYPE A, 3



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